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目的:研究贺州市β-地中海贫血患儿地中海贫血基因突变的位点及其频率分布情况。方法:对212例地贫初筛阳性者进行地中海贫血基因检测,抽取静脉血2mL(EDTA抗凝),采用PCR体外扩增结合DNA芯片反向点杂交技术,进行β-地贫的临床诊断。结果:212例地贫初筛阳性者共检出β-地中海贫血儿童72例,检出率为33.96%,共检出10种突变基因,22种基因型,居前4位的依次是:CD41-42(-TTCT)(38.89%)、CD17(A→T)(11.11%)、-28(A→G)(6.94%)、IVS-II-654(C→T)(5.56%),其中,单突变杂合子8种(70.83%),双突变杂合子10种(22.22%),单突变纯合子2种(4.17%),另外,检出少见位点突变CD14-15(+G)和CD41-42(-TTCT)/IVS-I-1(G→TG→A)各1例,占2.78%。结论:贺州市是β-地中海贫血高发区,患儿基因突变类型较多,做好地中海贫血初筛普查非常重要。应对地中海贫血初筛阳性者进行地中海贫血基因诊断,同时,建立β-地中海贫血基因网络档案库。
Objective: To investigate the frequency and location of the gene mutation of thalassemia in β-thalassemia children in Hezhou. Methods: A total of 212 cases of thalassemia primary screening positive for thalassemia gene detection, venous blood 2mL (EDTA anticoagulant), the use of PCR in vitro amplification combined with DNA chip reverse dot blot hybridization, the clinical diagnosis of β-thalassemia. Results: Seventy-two cases of thalassemia primary positive were detected in 72 cases of β-thalassemia, the detection rate was 33.96% .There were 10 kinds of mutations and 22 genotypes, the top 4 followed by CD41 -42 (-TTCT) (38.89%), CD17 (A → T) (11.11%), -28 (A → G) (6.94%) and IVS-II-654 , 8 (70.83%) single heterozygous mutants, 10 (22.22%) double mutated heterozygotes and 2 (4.17%) single mutated homozygotes. In addition, rare site mutations CD14-15 (+ G) and One case of CD41-42 (-TTCT) / IVS-I-1 (G → T G → A) accounted for 2.78%. Conclusion: Hezhou is a high prevalence area of β-thalassemia. There are many types of genetic mutations in children. It is very important to conduct screening screening of thalassemia in Hezhou. The diagnosis of thalassemia gene should be carried out in patients with primary thalassemia positive screening, and at the same time, the β-thalassemia gene network archives should be established.